Lattice corneal dystrophy associated with familial systemic amyloidosis (Meretoja's syndrome)

A 79-year-old white man of Irish descent presented with lattice corneal dystrophy, blepharochalasis, and peripheral seventh cranial nerve palsies. Family studies revealed that his 23-year-old daughter had early lattice cornea dystrophy. The corneal button removed by penetrating keratoplasty exhibited characteristic amyloid accumulation by light and electron microscopy. Biopsy of the patient's normal appearing conjunctiva and skin of the lower lid revealed amyloid. Biopsy of the daughter's conjunctiva was negative for amyloid, but her lid skin had characteristic amyloid deposits by light and electron microscopy. Immunoperoxidase strains were negative for AA and AP and serum prealbumin and SAA proteins were normal. Meretoja's syndrome has rarely been described outside a small geographic region in Finland. The clinical and histopathologic findings of this entity are discussed and contrasted to isolated "lattice corneal dystrophy."